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LDLR gene
Known as:
LDLR
, familial hypercholesterolemia
, LDLCQ2
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This gene plays a role in the modulation of ligand-specific receptor-mediated endocytosis, and also plays a regulatory role in cholesterol synthesis.
National Institutes of Health
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Related topics
Related topics
9 relations
Cholesterol Homeostasis
Hypercholesterolemia, Familial
Hyperlipoproteinemia Type IIa
LDLR protein, human
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Narrower (1)
LDLR wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Le médicament épigénétique 5-Azacytidine stabilise l’ARN messager du récepteur des lipoprotéines de basse densité (LDLR) via une voie IRE1α/EGFR/ERK1/2- dépendante
Nourhen Mnasri
2018
Corpus ID: 90672600
Cardiovascular disease (CVD) is the leading cause of mortality and morbidity in Canada and around the world. Several clinical…
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2017
2017
5938Efficacy of evinacumab in homozygous familial hypercholesterolemia patients with null or non-null LDL-receptor mutations and on various background therapies
G. Hovingh
,
D. Gipe
,
+8 authors
D. Gaudet
2017
Corpus ID: 79718960
adverse cardiovascular events (MACE; death, recurrent MI, target vessel revascularization (TVR)) within 5 years was evaluated…
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2016
2016
PCSK9 − „missing link“ der familiären Hypercholesterinämie
P. D. J. Thiery
,
Jun.-Prof. Dr. med. R. Burkhardt
Herz
2016
Corpus ID: 20245165
ZusammenfassungDie Absenkung der Plasma-LDL-C („Low-density lipoprotein“-Cholesterin)-Konzentration zählt zu den effektivsten Ma…
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2015
2015
Ailevi Hiperkolesterolemili Hastalarin Mutasyon Analiz Sonuçlarinin Simone-Broome Kriterleriyle Değerlendirilmesi The Evaluation of Mutation Analysis Results of Familial Hypercholesterolemia Patients…
Hacettepe Üniversitesi
,
A. Dursun
2015
Corpus ID: 78393085
Objective: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterised by defective cholesterol removal…
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2014
2014
Childhood Obesity and Familial Hypercholesterolemia: Genetic Diseases that Contribute to Cardiovascular Disease
A. Caudle
2014
Corpus ID: 53057091
Childhood obesity occurs as the result of an imbalance between caloric intake and energy expenditure. Genetic risk factors for…
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2011
2011
Genetic basis of familial hypercholesterolaemia
A. Alves
,
M. Bourbon
2011
Corpus ID: 83387318
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concentration in the blood. The…
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2008
2008
Annexin A2 Is a C-terminal PCSK9-binding Protein That Regulates Endogenous Low Density Lipoprotein
Steve Poirier
,
Nabil G. Seidah
2008
Corpus ID: 263510974
2006
2006
An Approach to in vivo Gene Delivery Generation of Targeted Retroviral Vectors by Using Single-Chain Variable Fragment:
N. Somia
,
M. Zoppè
,
I. Verma
2006
Corpus ID: 53384905
We report the generation of a retroviral vector that infects human cells specifically through recognition of the low density…
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1995
1995
Expression of mouse alpha-macroglobulins, lipoprotein rece apolipoprotein E, and lipoprotein lipase in pregnancy r-related protein, LDL receptor,
Lut Overbrgh
,
K. Lorent
,
S. Torrekens
,
F. Leuven
,
H. Berghe
1995
Corpus ID: 35430887
The expression of the proteinase inhibitors of the alpha-macroglobulin family and of their clearance receptor was analyzed in the…
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1995
1995
[Molecular heterogeneity of familial hypercholesterolemia in the St. Petersburg population].
M. I. Mandel'shtam
,
B. M. Lipovetskii
,
A. Shvartsman
,
V. Gaitskhoki
Genetika
1995
Corpus ID: 37603533
Inheritance of Taq I, BstE II, and Nco I restriction fragment length polymorphisms (RFLP) in three families from St. Petersburg…
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